Rosenau Family Research Foundation awards research grant to Dr. Chris Lee
June 25, 2025
Dr. Chris Lee recently received funding from the The Rosenau Family Research Foundation to support a research project titled “Molecular Characterization & Pathogenicity Assessment of Common VUS in KD”.
As Krabbe disease (KD) will be added to newborn screening programs in more states in the US, a large number of genetic variants with uncertain significance (VUS) are expected to emerge. The goal of this project is to understand the pathogenicity of the most common VUS that has been identified in KD. If successful, the results will facilitate clinical prognoses to predict the age of symptom-onset in KD patients carrying certain VUS genotypes.
Krabbe Disease
Krabbe disease is a lysosomal storage disorder with devastating neurological manifestations. It is an autosomal recessive inherited disorder, caused by mutations in the galactosylceramidase (GALC) gene, which severely impairs its function, and leads to extensive demyelination and neurodegeneration in the central and peripheral nervous systems. There are very limited treatment options for Krabbe disease patients, especially for the most common early infantile form, which results in symptoms onset within the first 6 months of life and often causes death before the age of two years.
RFRF Overview
The Rosenau Family Research Foundation has a vision of living a life undefined by Krabbe disease and Cystic Fibrosis, and a mission that focuses on improving the lives of people impacted by Krabbe disease and Cystic Fibrosis through research funding and disease advocacy.
To read the full RFRF story, click here.
